Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L D...

по Çebi, Alper Han, Altıner, Şule
Опубликовано в: Mol Syndromol (2020)

Assessment of Circulating Microribonucleic Acids in Patients With Familial Mediterranean Fever

по DEMİR, Ferhat, ÇEBİ, Alper Han, KALYONCU, Mukaddes
Опубликовано в: Arch Rheumatol (2019)

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation

по Sag, Elif, Cebi, Alper Han, Kaya, Gulay, Karaguzel, Gulay, Cakir, Murat
Опубликовано в: Pediatr Gastroenterol Hepatol Nutr (2017)

An infant with cholestasis, acholic stool and high GGT levels

по Sağ, Elif, Işık, Güneş, Çebi, Alper Han, Kalyoncu, Mukaddes, Çakır, Murat, Aydoğdu, Sema
Опубликовано в: Turk J Gastroenterol (2018)

Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism

по Burcu, Guven, Bellacchio, Emanuele, Sag, Elif, Cebi, Alper Han, Saygin, Ismail, Bahadir, Aysenur, Yilmaz, Guldal, Corbeddu, Marialuisa, Cakir, Murat, Callea, Francesco
Опубликовано в: Int J Mol Sci (2020)

Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease

по Karaca, Ender, Harel, Tamar, Pehlivan, Davut, Jhangiani, Shalini N., Gambin, Tomasz, Akdemir, Zeynep Coban, Gonzaga-Jauregui, Claudia, Erdin, Serkan, Bayram, Yavuz, Campbell, Ian M., Hunter, Jill V., Atik, Mehmed M., Van Esch, Hilde, Yuan, Bo, Wiszniewski, Wojciech, Isikay, Sedat, Yesil, Gozde, Yuregir, Ozge O., Bozdogan, Sevcan Tug, Aslan, Huseyin, Aydin, Hatip, Tos, Tulay, Aksoy, Ayse, De Vivo, Darryl C., Jain, Preti, Geckinli, B. Bilge, Sezer, Ozlem, Gul, Davut, Durmaz, Burak, Cogulu, Ozgur, Ozkinay, Ferda, Topcu, Vehap, Candan, Sukru, Cebi, Alper Han, Ikbal, Mevlit, Gulec, Elif Yilmaz, Gezdirici, Alper, Koparir, Erkan, Ekici, Fatma, Coskun, Salih, Cicek, Salih, Karaer, Kadri, Koparir, Asuman, Duz, Mehmet Bugrahan, Kirat, Emre, Fenercioglu, Elif, Ulucan, Hakan, Seven, Mehmet, Guran, Tulay, Elcioglu, Nursel, Yildirim, Mahmut Selman, Aktas, Dilek, Alikaşifoğlu, Mehmet, Ture, Mehmet, Yakut, Tahsin, Overton, John D., Yuksel, Adnan, Ozen, Mustafa, Muzny, Donna M., Adams, David R., Boerwinkle, Eric, Chung, Wendy K., Gibbs, Richard A., Lupski, James R
Опубликовано в: Neuron (2015)